Gene: ATP7B ×
Source: UNIPROT ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs76151636
rs76151636
ATP7B
1 0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04 0.900 1.000 23 1993 2019
dbSNP: rs28942074
rs28942074
ATP7B
1 0.851 0.240 13 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05 0.900 0.984 23 1995 2020
dbSNP: rs121907990
rs121907990
ATP7B
1 0.925 0.240 13 51937570 missense variant T/A;C snv 4.0E-06; 2.2E-04 0.820 1.000 23 1993 2018
dbSNP: rs1286080173
rs1286080173
ATP7B
1 0.925 0.160 13 51942551 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.800 1.000 23 1995 2017
dbSNP: rs201497300
rs201497300
ATP7B
1 0.925 0.160 13 51946337 missense variant C/T snv 4.6E-05 2.8E-05 0.820 1.000 20 1989 2016
dbSNP: rs376910645
rs376910645
ATP7B
1 0.925 0.160 13 51944162 missense variant C/T snv 4.0E-06 0.800 1.000 3 1995 2017
dbSNP: rs749085322
rs749085322
ATP7B
1 0.925 0.160 13 51941132 missense variant T/C snv 4.0E-05 2.1E-05 0.800 1.000 3 2008 2017
dbSNP: rs775541743
rs775541743
ATP7B
1 0.925 0.160 13 51942481 missense variant A/T snv 4.0E-06 0.800 1.000 3 1996 2017
dbSNP: rs1038582488
rs1038582488
ATP7B
1 1.000 0.160 13 51946405 missense variant C/T snv 4.0E-06 0.800 1.000 23 1995 2017
dbSNP: rs1057520235
rs1057520235
ATP7B
1 1.000 0.160 13 51950277 missense variant A/G snv 0.800 1.000 23 1995 2017
dbSNP: rs1212479289
rs1212479289
ATP7B
1 1.000 0.160 13 51960191 missense variant G/C;T snv 0.700 1.000 23 1995 2017
dbSNP: rs1213481140
rs1213481140
ATP7B
1 1.000 0.160 13 51941201 missense variant C/T snv 8.0E-06 0.800 1.000 23 1995 2017
dbSNP: rs1217463955
rs1217463955
ATP7B
1 1.000 0.160 13 51958340 missense variant G/C snv 4.0E-06 0.700 1.000 23 1995 2017
dbSNP: rs121907992
rs121907992
ATP7B
1 1.000 0.160 13 51937583 missense variant C/T snv 2.8E-05 5.6E-05 0.800 1.000 23 1995 2017
dbSNP: rs121907993
rs121907993
ATP7B
1 1.000 0.160 13 51949772 missense variant G/A;C;T snv 6.0E-05; 2.8E-05; 4.0E-06 0.800 1.000 23 1995 2017
dbSNP: rs121907994
rs121907994
ATP7B
1 1.000 0.160 13 51950116 missense variant G/A snv 6.8E-05 1.4E-05 0.810 1.000 23 1995 2017
dbSNP: rs121907996
rs121907996
ATP7B
1 1.000 0.160 13 51946438 missense variant C/T snv 3.6E-05 5.6E-05 0.800 1.000 23 1995 2017
dbSNP: rs121907997
rs121907997
ATP7B
1 1.000 0.160 13 51958369 missense variant G/A;C snv 3.6E-05; 4.0E-06 0.800 1.000 23 1995 2017
dbSNP: rs121907998
rs121907998
ATP7B
1 1.000 0.160 13 51961849 missense variant A/C snv 5.2E-04 4.0E-04 0.800 1.000 23 1995 2017
dbSNP: rs121908000
rs121908000
ATP7B
1 1.000 0.160 13 51958543 missense variant A/G snv 4.9E-05 0.820 1.000 23 1995 2017
dbSNP: rs121908001
rs121908001
ATP7B
1 1.000 0.160 13 51960198 missense variant C/T snv 0.800 1.000 23 1995 2017
dbSNP: rs137853279
rs137853279
ATP7B
1 1.000 0.160 13 51941111 stop gained C/A;T snv 0.700 1.000 23 1995 2017
dbSNP: rs137853284
rs137853284
ATP7B
1 1.000 0.160 13 51958334 missense variant G/A;C snv 5.2E-05; 8.0E-06 0.800 1.000 23 1995 2017
dbSNP: rs137853285
rs137853285
ATP7B
1 1.000 0.160 13 51958538 missense variant C/T snv 1.6E-05 4.9E-05 0.800 1.000 23 1995 2017
dbSNP: rs1394999756
rs1394999756
ATP7B
1 1.000 0.160 13 51958535 missense variant C/A;T snv 8.0E-06 0.800 1.000 23 1995 2017